Canonical Allele Identifier: CA1822110

Gene: RANBP2

Linked Data

• ClinVar Variation Id: 469483
• ClinVar RCV Id: RCV000534686 ; RCV000602236
• dbSNP Id: rs139151870
• ExAC: 2:109352651 T / C
• gnomAD v2: 2-109352651-T-C
• gnomAD v3: 2-108736195-T-C
• gnomAD v4: 2-108736195-T-C
• MyVariant Identifiers: chr2:g.109352651T>C (hg19) ; chr2:g.108736195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108736195T>C , CM000664.2:g.108736195T>C	GRCh38
NC_000002.11:g.109352651T>C , CM000664.1:g.109352651T>C	GRCh37
NC_000002.10:g.108719083T>C	NCBI36
NG_012210.1:g.21715T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697737.1:c.728T>C	ENSP00000513426.1:p.Met243Thr
ENST00000697738.1:n.837T>C
ENST00000697739.1:n.762T>C
ENST00000697740.1:c.650T>C	ENSP00000513427.1:p.Met217Thr
ENST00000697741.1:n.2565T>C
ENST00000283195.11:c.728T>C MANE Select	ENSP00000283195.6:p.Met243Thr
ENST00000283195.10:c.728T>C	ENSP00000283195.6:p.Met243Thr
NM_006267.4:c.728T>C	NP_006258.3:p.Met243Thr
XM_005264002.1:c.728T>C	XP_005264059.1:p.Met243Thr
XM_005264003.1:c.728T>C	XP_005264060.1:p.Met243Thr
XM_005264004.1:c.728T>C	XP_005264061.1:p.Met243Thr
XM_005264005.3:c.650T>C	XP_005264062.1:p.Met217Thr
XM_005264007.1:c.728T>C	XP_005264064.1:p.Met243Thr
XM_011511575.1:c.725T>C	XP_011509877.1:p.Met242Thr
XM_011511576.1:c.728T>C	XP_011509878.1:p.Met243Thr
XM_011511578.1:c.725T>C	XP_011509880.1:p.Met242Thr
XM_005264002.3:c.728T>C	XP_005264059.1:p.Met243Thr
XM_005264003.3:c.728T>C	XP_005264060.1:p.Met243Thr
XM_005264004.3:c.728T>C	XP_005264061.1:p.Met243Thr
XM_005264005.4:c.650T>C	XP_005264062.1:p.Met217Thr
XM_005264007.3:c.728T>C	XP_005264064.1:p.Met243Thr
XM_011511575.2:c.725T>C	XP_011509877.1:p.Met242Thr
XM_011511576.3:c.728T>C	XP_011509878.1:p.Met243Thr
XM_011511578.2:c.725T>C	XP_011509880.1:p.Met242Thr
XM_017004623.2:c.728T>C	XP_016860112.1:p.Met243Thr
XM_017004624.2:c.728T>C	XP_016860113.1:p.Met243Thr
XM_017004625.1:c.728T>C	XP_016860114.1:p.Met243Thr
NM_006267.5:c.728T>C MANE Select	NP_006258.3:p.Met243Thr